Associated disorders

The MED13L gene is associated with autosomal dominant transposition of the great arteries, dextro-looped 1 (MedGen UID: 332422).

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Invitae tests that include this gene:

Growth and differentiation factors provide important signals for setting up the body plan in the early embryo. The MED13L gene encodes a subunit of the Mediator complex, an important regulator of transcriptional activation downstream of these signaling factors. Pathogenic variants in this gene block gene expression and lead to cardiac malformations.

Assay and technical information

Invitae is a College of American Pathologists (CAP)-accredited and Clinical Laboratory Improvement Amendments (CLIA)-certified clinical diagnostic laboratory performing full-gene sequencing and deletion/duplication analysis using next-generation sequencing technology (NGS).

Our sequence analysis covers clinically important regions of each gene, including coding exons, +/- 10 base pairs of adjacent intronic sequence, and select noncoding variants. Our assay provides a Q30 quality-adjusted mean coverage depth of 350x (50x minimum, or supplemented with additional analysis). Variants classified as pathogenic or likely pathogenic are confirmed with orthogonal methods, except individual variants that have high quality scores and previously validated in at least ten unrelated samples.

Our analysis detects most intragenic deletions and duplications at single exon resolution. However, in rare situations, single-exon copy number events may not be analyzed due to inherent sequence properties or isolated reduction in data quality. If you are requesting the detection of a specific single-exon copy number variation, please contact Client Services before placing your order.

Gene Transcript reference Sequencing analysis Deletion/Duplication analysis
MED13L NM_015335.4